Varaico: Literature-Extracted Genetic Variants

Gene:HARS2
Variant:p.H454P
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HARS2

NM_012208.4:p.H454P

Associated Papers

The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.

Delmaghani S et al.

Human Genetics, 2022

Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.

Whatley M et al.

Frontiers in Genetics, 2020

Genetic mapping and exome sequencing identify variants associated with five novel diseases.

Puffenberger EG et al.

Plos One, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."